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rs587777026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTCAG;CCTCAG) 0 common in clinvar
(TGAGG;TGAGG) 0 common in clinvar
Make rs587777026(-;-)
Make rs587777026(-;TGAGG)
ReferenceGRCh38 38.1/142
Chromosome11
Position66701231
GeneSPTBN2
is asnp
is mentioned by
dbSNPrs587777026
ebirs587777026
HLIrs587777026
Exacrs587777026
Varsomers587777026
Maprs587777026
PheGenIrs587777026
hapmaprs587777026
1000 genomesrs587777026
hgdprs587777026
ensemblrs587777026
gopubmedrs587777026
geneviewrs587777026
scholarrs587777026
googlers587777026
pharmgkbrs587777026
gwascentralrs587777026
openSNPrs587777026
23andMers587777026
23andMe allrs587777026
SNP Nexus

SNPshotrs587777026
SNPdbers587777026
MSV3drs587777026
GWAS Ctlgrs587777026
Max Magnitude0
ClinVar
Risk rs587777026(TGAGGG,G;TGAGGG,G)
Alt rs587777026(TGAGGG,G;TGAGGG,G)
Reference rs587777026(CCTCAG;CCTCAG)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SPTBN2
CLNDBN Spinocerebellar ataxia, autosomal recessive 14
Reversed 1
HGVS NC_000011.9:g.66468702_66468706delTGAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054555.4,